Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
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Descrição
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
An approach to a chil with microcephaly
Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Dandy walker variant an association with Rubinstein Taybi syndrome
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients
Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine
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